full name
BRCA1 interacting protein C-terminal helicase 1

synonyms
BACH1, FANCJ, OF, BRIP1, ENSG00000136492

HGNC
HGNC:20473

Entrez Gene
Gene:83990

ENSEMBL
ENSG00000136492

location
chr: 17
start: 59756547
stop: 59940920
strand: -

OMIM
OMIM:605882: BRIP1 (Autosomal recessive inheritance)
OMIM:609054: Fanconi anemia, complementation group J
OMIM:114480: {Breast cancer, early-onset, susceptibility to}

transcripts
NM_032043.2

pathways
Cell Cycle [NCBI:1269741] [REACTOME:R-HSA-1640170]
Cell Cycle Checkpoints [NCBI:1269742] [REACTOME:R-HSA-69620]
Cytosolic iron-sulfur cluster assembly [NCBI:1270230] [REACTOME:R-HSA-2564830] [PUBMED:22609301] [PUBMED:20522543] [PUBMED:16824008] [PUBMED:22382365]
DNA Double-Strand Break Repair [NCBI:1309095] [REACTOME:R-HSA-5693532] [PUBMED:12897142] [PUBMED:20965415]
DNA Repair [NCBI:1270350] [REACTOME:R-HSA-73894] [PUBMED:10583946] [PUBMED:23175119]
Fanconi anemia pathway [NCBI:377262] [KEGG:hsa03460] [PUBMED:19805513] [PUBMED:18518821] [PUBMED:18047734] [PUBMED:20039786] [PUBMED:21701511] [PUBMED:20064461]
G2/M Checkpoints [NCBI:1269753] [REACTOME:R-HSA-69481]
G2/M DNA damage checkpoint [NCBI:1269754] [REACTOME:R-HSA-69473]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15175151] [PUBMED:14744435] [PUBMED:15680972] [PUBMED:11395415] [PUBMED:15896744] [PUBMED:10235266] [PUBMED:14986688] [PUBMED:12023297] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:16719718] [PUBMED:16921404] [PUBMED:15690163]
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) [NCBI:1309100] [REACTOME:R-HSA-5693567] [PUBMED:20965415]
HDR through Homologous Recombination (HRR) [NCBI:1309102] [REACTOME:R-HSA-5685942] [PUBMED:20965415]
HDR through Single Strand Annealing (SSA) [NCBI:1309108] [REACTOME:R-HSA-5685938] [PUBMED:12791985] [PUBMED:17962301] [PUBMED:25122754] [PUBMED:21804533] [PUBMED:12139939] [PUBMED:10212258] [PUBMED:10921897] [PUBMED:19357644] [PUBMED:21240188] [PUBMED:21325134] [PUBMED:9837724] [PUBMED:15485900] [PUBMED:17928296] [PUBMED:18539610] [PUBMED:12370410] [PUBMED:17965729] [PUBMED:22977173] [PUBMED:14734547] [PUBMED:21052091]
Homologous DNA Pairing and Strand Exchange [NCBI:1309103] [REACTOME:R-HSA-5693579] [PUBMED:9880493] [PUBMED:17996710] [PUBMED:12912992] [PUBMED:19369211] [PUBMED:19268590] [PUBMED:17996711] [PUBMED:24141787] [PUBMED:20871615] [PUBMED:20965415] [PUBMED:20871616] [PUBMED:23149936]
Homologous recombination [NCBI:83046] [KEGG:hsa03440] [PUBMED:12589470] [PUBMED:15902993] [PUBMED:16935872] [PUBMED:17395553] [PUBMED:18086882] [PUBMED:17571595] [PUBMED:18430459]
Homology Directed Repair [NCBI:1309099] [REACTOME:R-HSA-5693538] [PUBMED:11242102] [PUBMED:20965415] [PUBMED:11376695] [PUBMED:12427531]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Presynaptic phase of homologous DNA pairing and strand exchange [NCBI:1309104] [REACTOME:R-HSA-5693616] [PUBMED:20729858] [PUBMED:15665856] [PUBMED:20729832] [PUBMED:23149936] [PUBMED:23810717] [PUBMED:15703751] [PUBMED:18317453] [PUBMED:20729859] [PUBMED:11751635]
Processing of DNA double-strand break ends [NCBI:1309101] [REACTOME:R-HSA-5693607] [PUBMED:25122754] [PUBMED:18171670] [PUBMED:20965415] [PUBMED:22231403] [PUBMED:25558984] [PUBMED:19357644] [PUBMED:21325134] [PUBMED:21240188] [PUBMED:21659603] [PUBMED:23468639] [PUBMED:25659039]
Regulation of TP53 Activity [NCBI:1383076] [REACTOME:R-HSA-5633007] [PUBMED:19450511] [PUBMED:20457558] [PUBMED:23825024] [PUBMED:25641576]
Regulation of TP53 Activity through Phosphorylation [NCBI:1383080] [REACTOME:R-HSA-6804756] [PUBMED:11780126] [PUBMED:21317932] [PUBMED:15866171] [PUBMED:12393879] [PUBMED:11740489] [PUBMED:11447225] [PUBMED:9733515] [PUBMED:12851404] [PUBMED:10884347] [PUBMED:10710310] [PUBMED:11239457] [PUBMED:9925639] [PUBMED:11546806] [PUBMED:11551930] [PUBMED:10570149] [PUBMED:18490454] [PUBMED:17591690] [PUBMED:19965871] [PUBMED:12064478] [PUBMED:10673501] [PUBMED:22611192] [PUBMED:9843217] [PUBMED:15053879] [PUBMED:12914926] [PUBMED:10673500] [PUBMED:17349958] [PUBMED:14702041] [PUBMED:20959462] [PUBMED:10435622] [PUBMED:9733514]
Resolution of D-Loop Structures [NCBI:1309105] [REACTOME:R-HSA-5693537] [PUBMED:12902160] [PUBMED:20965415]
Resolution of D-loop Structures through Holliday Junction Intermediates [NCBI:1309106] [REACTOME:R-HSA-5693568] [PUBMED:24831703] [PUBMED:23509288] [PUBMED:22645308] [PUBMED:14527420] [PUBMED:19596236] [PUBMED:24509834] [PUBMED:14685245] [PUBMED:24076221] [PUBMED:24371268]
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) [NCBI:1309107] [REACTOME:R-HSA-5693554] [PUBMED:16855289] [PUBMED:22593209] [PUBMED:24115439] [PUBMED:20417600] [PUBMED:16648486] [PUBMED:19305001] [PUBMED:18957201]
Transcriptional Regulation by TP53 [NCBI:1269654] [REACTOME:R-HSA-3700989] [PUBMED:26122615] [PUBMED:19410540]